SWI/SNF染色质重塑复合物是由进化保守的核心亚基组成，如SMARCB1/INI1(INI1)、SMARCA4/BRG1(BRG1)、SMARCC1/BAF155(BAF155)和SMARCC2/BAF170(BAF170)，可被视为参与肿瘤抑制基因表达的表观遗传调节因子的原型。上皮样肉瘤是一种细胞分化方向尚不明确的肿瘤，几乎均有INI1的缺失。然而，一些上皮样肉瘤保留了INI1，这些肿瘤的临床病理特征尚不明确。迄今为止，还没有针对INI1保留的上皮样肉瘤中SWI/SNF染色质重塑复合物的研究。首先，对60例福尔马林固定石蜡包埋的上皮样肉瘤标本（近端型，29例；经典型，31例）进行INI1状态的免疫组织化学检测。在获得的INI1保留的上皮样肉瘤病例中分析BRG1、BAF155和BAF170蛋白的表达情况。在6例（21%；6/29）近端型和2例(6%；2/31）经典型上皮样肉瘤中观察到了INI1的存在。6例近端型INI1保留的上皮样肉瘤可用于进一步的免疫组织化学研究。其中1例近端型显示BAF170缺失，2例近端型显示BRG1缺失，同时保留其他核心亚基蛋白。1例近端型显示马赛克样的BRG1模式和BAF155的缺失。然而，在剩余2例近端型病例中，所有的核心亚单位蛋白均存在。总之，这些结果表明，SWI/SNF染色质重塑复合蛋白表达的缺失在肿瘤发生中具有重要作用。剩余2例INI1保留的上皮样肉瘤病例可能有其他异常导致的SWI/SNF染色质重塑功能障碍。

Am J Surg Pathol 2018;42:312-318

美国外科病理学杂志中文版2018年第三期摘要No.7

何鑫 翻译 张红英 审校

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